A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192718



Internal ID20759758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100189405..100211221hg38UCSC Ensembl
chr12:100583183..100604999hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3821817
hg1921817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459180
Supporting Variants
Samples
Known GenesACTR6, MIR1827
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192718
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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